Varaico: Literature-Extracted Genetic Variants

GGA1

58 papers

RefSeq Summary

This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) protein family. Members of this family are ubiquitous coat proteins that regulate the trafficking of ...

Pfam Domains

VHSaa 5–143UCSCVHS domain

GGA_N-GATaa 169–207UCSCN-terminal extension of GAT domain

GATaa 222–300UCSCGAT domain

Gene Aliases

HGNC Name

golgi associated, gamma adaptin ear containing, ARF binding protein 1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_013365.5

p.D204A

c.611A>C

Surrounding Variants

1 paper

NM_013365.5

p.M208I

c.624G>A

1 paper

NM_013365.5

p.M208I

c.624G>C

1 paper

NM_013365.5

p.M208I

c.624G>T

1 paper

NM_013365.5

p.S212L

c.635C>T

1 paper

NM_013365.5

p.S212S

c.636G>A

1 paper

NM_013365.5

p.K213E

c.637A>G

1 paper

NM_013365.5

p.A217D

c.650C>A

1 paper

NM_013365.5

p.K226E

c.676A>G

1 paper

NM_013365.5

p.E230A

c.689A>C

1 paper

NM_013365.5

p.M233V

c.697A>G

1 paper

NM_013365.5

p.S234insFs

c.701dupG

1 paper

NM_013365.5

p.G239S

c.715G>A